Canonical Allele Identifier: CA2184089724
Gene: MAP2K1 HGNC NCBI
SNAPC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66490439C= , CM000677.2:g.66490439C= GRCh38
NC_000015.9:g.66782777C= , CM000677.1:g.66782777C= GRCh37
NC_000015.8:g.64569831C= NCBI36
NG_008305.1:g.108567C= , LRG_725:g.108567C=
NG_051234.1:g.12377G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684779.1:c.*117-63C= (MAP2K1) ENSP00000508681.1:n.*117-63C=
ENST00000685172.1:c.1023-63C= (MAP2K1) ENSP00000509604.1:n.1023-63C=
ENST00000685763.1:c.922-63C= (MAP2K1) ENSP00000509016.1:n.922-63C=
ENST00000686347.1:c.742-63C= (MAP2K1) ENSP00000509027.1:n.742-63C=
ENST00000687191.1:n.3349-63C= (MAP2K1)
ENST00000687481.1:n.484-63C= (MAP2K1)
ENST00000688689.1:n.824-63C= (MAP2K1)
ENST00000689951.1:c.1120-63C= (MAP2K1) ENSP00000509308.1:n.1120-63C=
ENST00000691077.1:c.*2228-63C= (MAP2K1) ENSP00000509843.1:n.*2228-63C=
ENST00000691576.1:c.940-63C= (MAP2K1) ENSP00000510066.1:n.940-63C=
ENST00000691937.1:c.*50-63C= (MAP2K1) ENSP00000508768.1:n.*50-63C=
ENST00000692487.1:c.*2669-63C= (MAP2K1) ENSP00000509534.1:n.*2669-63C=
ENST00000692683.1:c.1003-63C= (MAP2K1) ENSP00000508437.1:n.1003-63C=
ENST00000693150.1:c.925-63C= (MAP2K1) ENSP00000510309.1:n.925-63C=
ENST00000307102.10:c.1069-63C= (MAP2K1) MANE Select ENSP00000302486.5:n.1069-63C=
ENST00000307102.9:c.1069-63C= (MAP2K1) ENSP00000302486.4:n.1069-63C=
ENST00000395589.6:c.*300G= (SNAPC5) ENSP00000378954.2:n.*300G=
ENST00000563480.6:c.*300G= (SNAPC5) ENSP00000457892.1:n.*300G=
ENST00000566326.1:c.541-63C= (MAP2K1) ENSP00000456438.1:n.541-63C=
NM_002755.3:c.1069-63C= , LRG_725t1:c.1069-63C= (MAP2K1) NP_002746.1:n.1069-63C=
NM_006049.2:c.*300G= (SNAPC5) NP_006040.1:n.*300G=
XM_011521783.1:c.1003-63C= (MAP2K1) XP_011520085.1:n.1003-63C=
NM_006049.3:c.*300G= (SNAPC5) NP_006040.1:n.*300G=
NR_138061.1:n.819G= (SNAPC5)
XM_011521783.3:c.1003-63C= (MAP2K1) XP_011520085.1:n.1003-63C=
XM_017022411.2:c.991-63C= (MAP2K1) XP_016877900.1:n.991-63C=
XM_017022412.1:c.925-63C= (MAP2K1) XP_016877901.1:n.925-63C=
XM_017022413.1:c.541-63C= (MAP2K1) XP_016877902.1:n.541-63C=
NM_002755.4:c.1069-63C= (MAP2K1) MANE Select NP_002746.1:n.1069-63C=
NM_006049.4:c.*300G= (SNAPC5) NP_006040.1:n.*300G=
NR_138061.2:n.766G= (SNAPC5)